This website provides information on patients with mutations in the KIF5A gene, including clinical data, molecular data, management and research options.
The gene KIF5A has been linked to a wide range of neurodegenerative disorders, such as Amyotrophic Lateral Sclerosis (ALS), Hereditary Spastic Paraplegia(SPG10/HSP), Neonatal Intractable Myoclonus(NEIMY) and Charcot-MarieTooth disease (CMT2). Susceptibility towards developing any one of these diseases depends on the location of variants, which are largely inherited in an autosomal dominant manner.
Not all individuals with a mutation in the KIF5A gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KIF5A gene.
Mohammed Faruq, MBBS, PhD, Genomics and Molecular Medicine Research Area (IGIB), CSIR-Institute of Genomics and Integrative Biology, New Delhi, India, firstname.lastname@example.org